Canonical Allele Identifier: CA360367513
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1227186593
gnomAD v2: 5-90051003-G-C
gnomAD v4: 5-90755186-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90755186G>C , CM000667.2:g.90755186G>C GRCh38
NC_000005.9:g.90051003G>C , CM000667.1:g.90051003G>C GRCh37
NC_000005.8:g.90086759G>C NCBI36
NG_007083.1:g.201387G>C
NG_007083.2:g.230843G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.11580+1G>C MANE Select ENSP00000384582.2:n.11580+1G>C
ENST00000425867.3:c.711+1G>C ENSP00000392618.3:n.711+1G>C
ENST00000639431.1:c.265+78977G>C ENSP00000491057.1:n.265+78977G>C
ENST00000640374.1:n.4724+1G>C
ENST00000640464.1:n.1999+1G>C
ENST00000405460.6:c.11580+1G>C ENSP00000384582.2:n.11580+1G>C
ENST00000509621.1:c.4277+1G>C
NM_032119.3:c.11580+1G>C NP_115495.3:n.11580+1G>C
NR_003149.1:n.11593+1G>C
XM_011543675.1:c.11577+1G>C XP_011541977.1:n.11577+1G>C
XM_011543676.1:c.11499+1G>C XP_011541978.1:n.11499+1G>C
XM_011543677.1:c.8883+1G>C XP_011541979.1:n.8883+1G>C
XM_011543678.1:c.11580+1G>C XP_011541980.1:n.11580+1G>C
NM_032119.4:c.11580+1G>C MANE Select NP_115495.3:n.11580+1G>C
XM_017009963.2:c.11601+1G>C XP_016865452.1:n.11601+1G>C
XM_017009964.2:c.11598+1G>C XP_016865453.1:n.11598+1G>C
XM_017009965.1:c.11598+1G>C XP_016865454.1:n.11598+1G>C
XM_017009966.2:c.11520+1G>C XP_016865455.1:n.11520+1G>C
XM_017009967.1:c.11505+1G>C XP_016865456.1:n.11505+1G>C
XM_017009968.2:c.11601+1G>C XP_016865457.1:n.11601+1G>C
XM_017009969.2:c.11601+1G>C XP_016865458.1:n.11601+1G>C
XM_017009970.2:c.11601+1G>C XP_016865459.1:n.11601+1G>C
XM_017009971.2:c.11601+1G>C XP_016865460.1:n.11601+1G>C
XM_017009972.1:c.4719+1G>C XP_016865461.1:n.4719+1G>C
XM_017009973.1:c.4698+1G>C XP_016865462.1:n.4698+1G>C
NR_003149.2:n.11596+1G>C